Canonical Allele Identifier: CA2739277576
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2845311
ClinVar RCV Id: RCV003644551

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32397048_32397049insATTCTGGTAA , CM000675.2:g.32397048_32397049insATTCTGGTAA GRCh38
NC_000013.10:g.32971185_32971186insATTCTGGTAA , CM000675.1:g.32971185_32971186insATTCTGGTAA GRCh37
NC_000013.9:g.31869185_31869186insATTCTGGTAA NCBI36
NG_012772.3:g.86569_86570insATTCTGGTAA , LRG_293:g.86569_86570insATTCTGGTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*171+4_*171+5insATTCTGGTAA
ENST00000528762.2:c.*1015+4_*1015+5insATTCTGGTAA
ENST00000530893.7:c.9279+4_9279+5insATTCTGGTAA
ENST00000665585.2:c.*1210+4_*1210+5insATTCTGGTAA
ENST00000700202.2:c.9597+4_9597+5insATTCTGGTAA
ENST00000700202.1:c.2064+4_2064+5insATTCTGGTAA
ENST00000700203.1:n.1775+4_1775+5insATTCTGGTAA
ENST00000380152.8:c.9648+4_9648+5insATTCTGGTAA
ENST00000544455.6:c.9648+4_9648+5insATTCTGGTAA
ENST00000614259.2:c.9656+4_9656+5insATTCTGGTAA
ENST00000665585.1:c.2526+4_2526+5insATTCTGGTAA
ENST00000680887.1:c.9648+4_9648+5insATTCTGGTAA
ENST00000380152.7:c.9648+4_9648+5insATTCTGGTAA
ENST00000470094.1:c.731+4_731+5insATTCTGGTAA
ENST00000533776.1:n.236+4_236+5insATTCTGGTAA
ENST00000544455.5:c.9648+4_9648+5insATTCTGGTAA
NM_000059.3:c.9648+4_9648+5insATTCTGGTAA , LRG_293t1:c.9648+4_9648+5insATTCTGGTAA
XM_011535203.1:c.9648+4_9648+5insATTCTGGTAA
XM_011535204.1:c.9552+4_9552+5insATTCTGGTAA
NM_000059.4:c.9648+4_9648+5insATTCTGGTAA